A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9675869



Internal ID12993917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35254025..35254044hg38UCSC Ensembl
Innerchr18:35254021..35254048hg38UCSC Ensembl
Outerchr18:35254002..35254067hg38UCSC Ensembl
chr18:32833989..32834008hg19UCSC Ensembl
Innerchr18:32833985..32834012hg19UCSC Ensembl
Outerchr18:32833966..32834031hg19UCSC Ensembl
chr18:31087987..31088006hg18UCSC Ensembl
Innerchr18:31088010..31087983hg18UCSC Ensembl
Outerchr18:31087964..31088029hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3390534
Supporting Variants
SamplesNA12043
Known GenesZNF397, ZSCAN30
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9675869
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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